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This Week in Nature: Aug 23, 2012

In this week's Nature, Decode Genetics researchers publish genome sequencing data showing that children of older fathers have a higher de novo mutation rate. "Most notably, the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child," the researchers write, and the effect translates to about two mutations for every additional year of the father's age. The results suggest that father's age could increase the risk of conditions such as schizophrenia and autism.

Elsewhere, a team led by researchers from the International Rice Research Institute in the Philippines reports on the characterization of a gene that can enhance rice yields in crops that typically require phosphorus fertilizer. Additional analysis shows that the gene, dubbed phosphorus-starvation tolerance 1, or PSTOL1, enhances early root growth, enabling plants to acquire more phosphorus and other nutrients. Introducing this gene into various rice varieties could, the team says, "considerably enhance productivity under low phosphorus conditions."

Also in Nature, University of Washington in Seattle researchers detail the discovery that mice with only a single functional copy of the SCN1A gene, which encodes the voltage-gated sodium channel Nav1.1, display autism-like behavior. The findings indicate that Dravet's syndrome, a childhood epilepsy disorder caused by dysfunction of this sodium channel, is associated with the autistic and cognitive symptoms observed in patients. The mutation that impairs Nav1.1 also negatively affects GABA neurotransmission in the brain, and when mice were treated with clonazepam, a known positive modulator of GABA receptors, the autistic behavior is eliminated, suggesting a "potential therapeutic strategy for cognitive deficit and autism-spectrum behaviors in Dravet's syndrome," the researchers write.

The Scan

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.

Circulating Tumor DNA Linked to Post-Treatment Relapse in Breast Cancer

Post-treatment detection of circulating tumor DNA may identify breast cancer patients who are more likely to relapse, a new JCO Precision Oncology study finds.

Genetics Influence Level of Depression Tied to Trauma Exposure, Study Finds

Researchers examine the interplay of trauma, genetics, and major depressive disorder in JAMA Psychiatry.

UCLA Team Reports Cost-Effective Liquid Biopsy Approach for Cancer Detection

The researchers report in Nature Communications that their liquid biopsy approach has high specificity in detecting all- and early-stage cancers.